{"id":2362,"date":"2019-06-05T08:00:00","date_gmt":"2019-06-05T08:00:00","guid":{"rendered":"https:\/\/dnaera.com\/rs\/?p=2362"},"modified":"2023-04-17T09:22:27","modified_gmt":"2023-04-17T07:22:27","slug":"co-sa-deje-s-mojou-vzorkou-v-laboratoriu","status":"publish","type":"post","link":"https:\/\/dnaera.com\/rs\/blog\/co-sa-deje-s-mojou-vzorkou-v-laboratoriu\/","title":{"rendered":"\u010co sa deje s mojou vzorkou v laborat\u00f3riu?"},"content":{"rendered":"\n<p><em>Zauj\u00edma v\u00e1s, \u010do v\u0161etko sa deje s va\u0161ou vzorkou sl\u00edn? Pripravili sme si pre v\u00e1s kr\u00e1tke zhrnutie v\u0161etk\u00fdch aktiv\u00edt a procesov, ktor\u00e9 musia by\u0165 vykonen\u00e9, k\u00fdm v\u00e1m do profilu nahr\u00e1me v\u00fdsledky va\u0161ej DNA anal\u00fdzy. \u010c\u00edtajte \u010falej. <\/em><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Ako je mo\u017en\u00e9 v\u00f4bec nie\u010do vy\u010d\u00edta\u0165 zo sl\u00edn?<\/h2>\n\n\n\n<p>Po odbere vzorky sl\u00edn nie je predmetom sk\u00famania tekutina ako tak\u00e1, ale\u00a0bunky sliznice z\u00a0epitelu \u00fastnej dutiny, ktor\u00e9 sa v\u00a0nej nach\u00e1dzaj\u00fa. Tieto bunky obsahuj\u00fa vo svojom\u00a0jadre DNA, ktor\u00e1 je zlo\u017een\u00e1 z nukleotidov (A, G, C, T). Nukleotidy s\u00fa molekuly, ktor\u00e9 podobne ako 1 a\u00a00 v\u00a0informatike sl\u00fa\u017eia na uchovanie inform\u00e1cie pre bunku o\u00a0tom, ako m\u00e1 vyzera\u0165 a\u00a0ako sa m\u00e1 spr\u00e1va\u0165. Pr\u00e1ve DNA je zdrojom inform\u00e1ci\u00ed aj pre n\u00e1s, ke\u010f\u017ee ju dnes vieme prelomov\u00fdmi technol\u00f3giami efekt\u00edvne \u010d\u00edta\u0165.<\/p>\n\n\n\n<p>V na\u0161om pr\u00edpade s\u00fa touto inform\u00e1ciou takzvan\u00e9 SNP polymorfizmy. Single Nucleotid Polymorphism (hovorovo \u201esnip\u201c) predstavuje zmenu jedin\u00e9ho nukleotidu v sekvencii n\u00e1\u0161ho gen\u00f3mu na konkr\u00e9tnom mieste. T\u00e1to zmena je dedi\u010dn\u00e1, vyskytuje sa v popul\u00e1cii v ur\u010ditej frekvencii (&gt;1%) a m\u00f4\u017ee by\u0165 pren\u00e1\u0161an\u00e1 spolo\u010dne s&nbsp;mut\u00e1ciou sp\u00f4sobuj\u00facou konkr\u00e9tne ochorenie, alebo in\u00fa, dedi\u010dne podmienen\u00fa vlastnos\u0165 organizmu. Identifikovan\u00edm vybran\u00fdch SNP polymorfizmov dok\u00e1\u017eeme vyhodnoti\u0165 \u0161irok\u00e9 spektrum ochoren\u00ed a&nbsp;in\u00fdch dedi\u010dne podmienen\u00fdch vlastnost\u00ed individu\u00e1lne pre ka\u017ed\u00e9ho \u010dloveka \u201elen\u201c na z\u00e1klade jednej vzorky sl\u00edn.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Ako prebieha proces spracovania, anal\u00fdzy a&nbsp;vyhodnocovania mojej vzorky?<\/h2>\n\n\n\n<p>Akon\u00e1hle sa vzorka sl\u00edn dostane do laborat\u00f3ria, prevezme ju odborn\u00fd person\u00e1l, ktor\u00fd vykon\u00e1 s\u00e9riu validovan\u00fdch laborat\u00f3rnych postupov nevyhnutn\u00fdch pre z\u00edskanie po\u017eadovan\u00fdch d\u00e1t vysokej kvality.<\/p>\n\n\n\n<p>Prv\u00fdm krokom je izol\u00e1cia samotnej DNA. T\u00e1 prebieha bu\u010f cez kol\u00f3nku, \u010di\u017ee ak\u00e9si miniat\u00farne filtre, ktor\u00e9 zachyt\u00e1vaj\u00fa iba DNA a&nbsp;prep\u00fa\u0161\u0165aj\u00fa ostatn\u00e9 ne\u010distoty, alebo pomocou magnetick\u00fdch gu\u013e\u00f4\u010dok, ktor\u00e9 vychyt\u00e1vaj\u00fa DNA priamo z&nbsp;roztoku so vzorkou.<\/p>\n\n\n\n<p>Po izol\u00e1cii nasleduje proces pr\u00edpravy vzorky na skenovanie, ktor\u00fd celkovo trv\u00e1 3 dni. Spo\u010d\u00edva v&nbsp;namno\u017een\u00ed DNA po\u010das no\u010dnej inkub\u00e1cie, aby sme z\u00edskali dostato\u010dn\u00e9 mno\u017estvo inform\u00e1cie na detekciu sign\u00e1lu. N\u00e1sledne sa namno\u017een\u00e1 DNA po\u0161tiepi pomocou enz\u00fdmov zvan\u00fdch re\u0161trik\u010dn\u00e9 endonukle\u00e1zy, ktor\u00e9 dok\u00e1\u017eu \u0161tiepi\u0165 DNA na definovanom mieste.<\/p>\n\n\n\n<p>\u0160tiepenie DNA na kr\u00e1tke fragmenty je nevyhnutn\u00e9, preto\u017ee len kr\u00e1tke fragmenty s\u00fa schopn\u00e9 efekt\u00edvne nasada\u0165 na ve\u013ek\u00e9 mno\u017estvo sekvenci\u00ed na \u010dipe, \u010do je \u010fal\u0161\u00edm krokom anal\u00fdzy. Fragmenty s\u00fa v&nbsp;\u0148om zachyt\u00e1van\u00e9 na \u0161peci\u00e1lny \u010dip, ktor\u00fd obsahuje st\u00e1tis\u00edce a\u017e mili\u00f3ny sekvenci\u00ed. Tieto sekvencie s\u00fa komplement\u00e1rne, \u010di\u017ee sa dok\u00e1\u017eu sp\u00e1rova\u0165 s&nbsp;ur\u010dit\u00fdmi fragmentami vo vzorke, ktor\u00e9 nes\u00fa pr\u00e1ve inform\u00e1cie o polymorfizmoch, ktor\u00e9 n\u00e1s zauj\u00edmaj\u00fa.<\/p>\n\n\n\n<p>Po sp\u00e1rovan\u00ed fragmentov so sekvenciami na \u010dipe nasleduje f\u00e1za detekcie. Pri nej sa prid\u00e1 na povrch \u010dipu roztok obsahuj\u00faci 4 r\u00f4zne zna\u010den\u00e9 nukleotidy A, G, C, T. Pr\u00edslu\u0161n\u00fd enz\u00fdm n\u00e1sledne prirad\u00ed 1 konkr\u00e9tny nukleotid k oblasti&nbsp;n\u00e1\u0161ho z\u00e1ujmu, \u010do je v&nbsp;na\u0161om pr\u00edpade pr\u00e1ve vybran\u00fd SNP polymorfizmus. Po priraden\u00ed komplement\u00e1rnej b\u00e1zy nasleduje f\u00e1za skenovania \u010dipu. V&nbsp;tejto f\u00e1ze senzor zachyt\u00ed jednotliv\u00e9 fluorescen\u010dn\u00e9 sign\u00e1ly a&nbsp;prevedie ich do digit\u00e1lnej podoby, ktor\u00fa n\u00e1sledne vyhodnocuje pr\u00edslu\u0161n\u00fd softv\u00e9r. T\u00e1to reakcia prebieha s\u00fa\u010dasne na&nbsp;st\u00e1tis\u00edcoch miest na \u010dipe, \u010do umo\u017e\u0148uje anal\u00fdzu a\u017e 650 000 SNP pre ka\u017ed\u00fa vzorku a&nbsp;z\u00e1rove\u0148 dok\u00e1\u017ee spracova\u0165 viacero vzoriek s\u00fa\u010dasne.<\/p>\n\n\n\n<p>V\u00fdstupom tejto anal\u00fdzy s\u00fa takzvan\u00e9 raw d\u00e1ta obsahuj\u00face inform\u00e1cie o&nbsp;priraden\u00ed jednotliv\u00fdch zna\u010den\u00fdch nukleotidov ku konkr\u00e9tnym miestam na \u010dipe. Tieto miesta obsahuj\u00fa sekvencie (pr\u00f3by) \u0161pecifick\u00e9 pre jednotliv\u00e9 SNP polymorfizmy. V&nbsp;\u010fal\u0161\u00edch krokoch je anal\u00fdza zameran\u00e1 na kvalitu detekcie a&nbsp;vyhodnotenie cel\u00e9ho procesu genotypiz\u00e1cie.<\/p>\n\n\n\n<p>Kone\u010dn\u00fdm v\u00fdsledkom anal\u00fdzy je teda s\u00fabor v\u0161etk\u00fdch analyzovan\u00fdch SNP polymorfizmov s&nbsp;vyhodnoten\u00edm ich stavu u&nbsp;dan\u00e9ho \u010dloveka. Stav polymorfizmu n\u00e1m u\u017e potom priamo napoved\u00e1 o pr\u00edtomnosti alebo absencii genetickej mut\u00e1cie sp\u00f4sobuj\u00facej dan\u00e9 ochorenie alebo in\u00fa geneticky podmienen\u00fa \u010drtu. Anal\u00fdza je vyhodnocovan\u00e1 odborn\u00edkmi v&nbsp;oblasti genomiky a&nbsp;spracovan\u00e1 do reportov individu\u00e1lne pre vzorku ka\u017ed\u00e9ho z na\u0161ich z\u00e1kazn\u00edkov.<\/p>\n\n\n\n<p>Cel\u00fd proces prebieha v&nbsp;modern\u00fdch laborat\u00f3ri\u00e1ch pri \u010do najvy\u0161\u0161ej miere automatiz\u00e1cie a&nbsp;robotiz\u00e1cie pre zabezpe\u010denie vysokej efektivity a&nbsp;minimaliz\u00e1cie ch\u00fdb sp\u00f4soben\u00fdch \u013eudsk\u00fdm faktorom.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u010co urob\u00ed laborat\u00f3rium s mojou vzorkou po anal\u00fdze?&nbsp;<\/h2>\n\n\n\n<p>Po ukon\u010den\u00ed anal\u00fdzy doch\u00e1dza k \u00fapln\u00e9mu zni\u010deniu vzorky, ktor\u00e1 bola do laborat\u00f3ria zaslan\u00e1 pod jedine\u010dn\u00fdm k\u00f3dom na sk\u00famavke. Stane sa tak do 14 dn\u00ed od DNA anal\u00fdzy. D\u00e1ta z\u00edskan\u00e9 z anal\u00fdzy zasiela laborat\u00f3rium na \u010fal\u0161ie spracovanie k n\u00e1m a do 30 dn\u00ed s\u00fa v\u0161etky digit\u00e1lne d\u00e1ta o vzorke vymazan\u00e9. Digit\u00e1lne d\u00e1ta z va\u0161ej vzorky DNA dostanete spolu s va\u0161ou <a href=\"https:\/\/app.dnaera.sk\/sign-in?demo=true\">DNA anal\u00fdzou<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Zauj\u00edma v\u00e1s, \u010do v\u0161etko sa deje s va\u0161ou vzorkou sl\u00edn? Pripravili sme si pre v\u00e1s kr\u00e1tke zhrnutie v\u0161etk\u00fdch aktiv\u00edt a procesov, ktor\u00e9 musia by\u0165 vykonen\u00e9, k\u00fdm v\u00e1m do profilu nahr\u00e1me v\u00fdsledky va\u0161ej DNA anal\u00fdzy. \u010c\u00edtajte \u010falej. Ako je mo\u017en\u00e9 v\u00f4bec nie\u010do vy\u010d\u00edta\u0165 zo sl\u00edn? Po odbere vzorky sl\u00edn nie je predmetom sk\u00famania tekutina ako tak\u00e1, [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":2363,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"content-type":"","inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[58,59,62],"place-taxonomy":[],"class_list":["post-2362","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-sk","tag-dna-analyza","tag-dna-test","tag-o-nas"],"acf":[],"views":2259,"_links":{"self":[{"href":"https:\/\/dnaera.com\/rs\/wp-json\/wp\/v2\/posts\/2362","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dnaera.com\/rs\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dnaera.com\/rs\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dnaera.com\/rs\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/dnaera.com\/rs\/wp-json\/wp\/v2\/comments?post=2362"}],"version-history":[{"count":1,"href":"https:\/\/dnaera.com\/rs\/wp-json\/wp\/v2\/posts\/2362\/revisions"}],"predecessor-version":[{"id":1352226,"href":"https:\/\/dnaera.com\/rs\/wp-json\/wp\/v2\/posts\/2362\/revisions\/1352226"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dnaera.com\/rs\/wp-json\/wp\/v2\/media\/2363"}],"wp:attachment":[{"href":"https:\/\/dnaera.com\/rs\/wp-json\/wp\/v2\/media?parent=2362"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dnaera.com\/rs\/wp-json\/wp\/v2\/categories?post=2362"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dnaera.com\/rs\/wp-json\/wp\/v2\/tags?post=2362"},{"taxonomy":"place-taxonomy","embeddable":true,"href":"https:\/\/dnaera.com\/rs\/wp-json\/wp\/v2\/place-taxonomy?post=2362"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}